Critical genes in genitourinary embryogenesis are related to the development of adult hydrocele.

ABSTRACT: Despite being a common urologic disorder with potentially complicated sequela, the genetic background of adult hydrocele has not previously been described. We performed a multi-population genome-wide association study of 363,460 men in the United Kingdom BioBank and FinnGen cohorts. We identified 6,548 adult men with hydrocele. We analyzed common variants (minor allele frequency > 0.01) associated with hydrocele and set the threshold for genome-wide significance at p < 5 × 10^- 8. Meta-analysis of genome-wide association studies identified 7 genome-wide significant loci which mapped to 24 genes. Multiple gene prioritization strategies highlighted PAX8, INHBB, AMHR2, and SHH, all known to be critical to genitourinary embryogenesis and associated with Mendelian genitourinary syndro

SUBMITTER: Roberson JL 

PROVIDER: S-EPMC11621517 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature